ClinVar Miner

Submissions for variant NM_001321380.2(PIK3C2A):c.-75-13528T>G

dbSNP: rs1565287817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000778122 SCV001146827 likely pathogenic Oculocerebrodental syndrome 2019-10-02 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Oculoskeletodental syndrome, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PVS1-Moderate, PS3-Moderate.
OMIM RCV000778122 SCV000914232 pathogenic Oculocerebrodental syndrome 2019-05-21 no assertion criteria provided literature only

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